Linked Data
ClinVar Variation Id:
1529033
ClinVar RCV Id:
RCV002079894
dbSNP Id:
rs2115649282
MyVariant Identifiers:
chr7:g.83036533G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83407217G>A , CM000669.2:g.83407217G>A | GRCh38 |
| NC_000007.13:g.83036533G>A , CM000669.1:g.83036533G>A | GRCh37 |
| NC_000007.12:g.82874469G>A | NCBI36 |
| NG_021242.1:g.246947C>T | |
| NG_021242.2:g.246947C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427262.6:c.513C>T | ENSP00000405052.1:p.Tyr171= | |
| ENST00000642232.1:c.693C>T | ENSP00000494064.1:p.Tyr231= | |
| ENST00000643230.2:c.693C>T MANE Select | ENSP00000496491.1:p.Tyr231= | |
| ENST00000643441.1:n.678C>T | ||
| ENST00000644381.1:n.256C>T | ||
| ENST00000307792.7:c.693C>T | ENSP00000303212.3:p.Tyr231= | |
| ENST00000427262.5:c.513C>T | ENSP00000405052.1:p.Tyr171= | |
| NM_001178129.1:c.513C>T | NP_001171600.1:p.Tyr171= | |
| NM_012431.2:c.693C>T | NP_036563.1:p.Tyr231= | |
| XM_011516715.1:c.693C>T | XP_011515017.1:p.Tyr231= | |
| NM_012431.3:c.693C>T MANE Select | NP_036563.1:p.Tyr231= | |
| NM_001178129.2:c.513C>T | NP_001171600.1:p.Tyr171= |